NAIL PATELLA SYNDROME

NAIL PATELLA SYNDROME

Nail patella syndrome is a rarely seen genetic disorder. Clinically the disease is known as hereditary osteo – onychodysplasia. Only one in fifty thousand persons is seen affected by nail patella syndrome. In patients affected by nail patella syndrome the knee caps are often absent or underdeveloped. Their nails are also not properly developed and they suffer from a disability to straighten their elbows completely. Acuteness and complexity of nail patella syndrome varies from person to person
Nail patella syndrome patients are also seen suffering from various other types of orthopedic disorders. These may be in the form of dislocated elbows, club foot or abnormal growth of bones.

These patients are more prone to kidney disorders. The most commonly seen kidney disorder in nail patella syndrome is the leakage of protein through urine. In rare cases total kidney failure has also occurred. It is therefore very important for a nail patella syndrome patient to undergo a routine medical check up for early detection of probable kidney failure. The necessary clinical tests should be conducted strictly at least once in a year.

Patients with nail patella syndrome are more likely to develop glaucoma, an eye disorder, at an early stage. Therefore care should be taken by these persons to check for glaucoma through regular checkups.
Other common complications found in association with nail patella syndrome are irritable bowels syndrome, constipation and poor blood circulation to the hands and feet.

As stated in the beginning, nail patella syndrome is a genetical disorder and is hereditary in nature. It is caused by disorder to a gene called LMXIB which is found in chromosome 9. Nail patella syndrome can have no adverse effect on the intelligence of a person. It can however have a bearing on his free mobility. The most commonly seen symptoms of nail patella syndrome are orthopedic disorders and vision complains. Patients suffering from nail patella syndrome often complain about partial or complete lose of side vision. They often have to change their spectacles due to glaring variations in vision. They find it difficult to adjust to sudden light variations. Difficulties in vision often cause severe headaches. Their eyes often appear to be sore or red in colour.